Linked Data
ClinVar Variation Id:
256027
dbSNP Id:
rs770638519
ExAC:
3:33093431 G / A
gnomAD v2:
3-33093431-G-A
gnomAD v3:
3-33051939-G-A
gnomAD v4:
3-33051939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33051939G>A , CM000665.2:g.33051939G>A | GRCh38 |
| NC_000003.11:g.33093431G>A , CM000665.1:g.33093431G>A | GRCh37 |
| NC_000003.10:g.33068435G>A | NCBI36 |
| NG_009005.1:g.50264C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.858C>T MANE Select | ENSP00000306920.4:p.Thr286= | |
| ENST00000307363.9:c.858C>T | ENSP00000306920.4:p.Thr286= | |
| ENST00000307377.12:c.465C>T | ENSP00000305920.8:p.Thr155= | |
| ENST00000399402.7:c.768C>T | ENSP00000382333.2:p.Thr256= | |
| ENST00000415454.1:c.381C>T | ENSP00000411813.1:p.Thr127= | |
| ENST00000438227.1:c.*350C>T | ENSP00000401250.1:n.*350C>T | |
| ENST00000446732.5:c.*301C>T | ENSP00000407365.1:n.*301C>T | |
| ENST00000482097.5:n.233C>T | ||
| ENST00000485698.5:n.261C>T | ||
| ENST00000498537.5:n.384C>T | ||
| NM_000404.2:c.858C>T | NP_000395.2:p.Thr286= | |
| NM_000404.3:c.858C>T | NP_000395.2:p.Thr286= | |
| NM_001079811.1:c.768C>T | NP_001073279.1:p.Thr256= | |
| NM_001079811.2:c.768C>T | NP_001073279.1:p.Thr256= | |
| NM_001135602.1:c.465C>T | NP_001129074.1:p.Thr155= | |
| NM_001135602.2:c.465C>T | NP_001129074.1:p.Thr155= | |
| NM_001317040.1:c.1002C>T | NP_001303969.1:p.Thr334= | |
| NM_000404.4:c.858C>T MANE Select | NP_000395.3:p.Thr286= | |
| NM_001079811.3:c.768C>T | NP_001073279.2:p.Thr256= | |
| NM_001135602.3:c.465C>T | NP_001129074.2:p.Thr155= | |
| NM_001317040.2:c.1002C>T | NP_001303969.2:p.Thr334= | |
| NM_001393580.1:c.858C>T | NP_001380509.1:p.Thr286= |